Marfan syndrome: light at the end of the tunnel?
作者信息
Tsipouras P
出版信息
Am J Hum Genet. 1990 Apr;46(4):643-5.
Abstract
摘要
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本文引用的文献
1
Marfan syndrome. Demonstration of abnormal elastin in aorta.
J Clin Invest. 1982 Dec;70(6):1245-52. doi: 10.1172/jci110723.
2
Studies on elastic tissue of aorta in aortic dissections and Marfan syndrome.
Pathol Biol (Paris). 1981 Nov;29(9):539-47.
3
Marfan syndrome: abnormal alpha 2 chain in type I collagen.
Proc Natl Acad Sci U S A. 1981 Dec;78(12):7745-9. doi: 10.1073/pnas.78.12.7745.
4
Reduced activity of serum beta-glucuronidase in Marfan syndrome.
Angiology. 1986 Aug;37(8):576-80. doi: 10.1177/000331978603700804.
5
Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils.
J Cell Biol. 1986 Dec;103(6 Pt 1):2499-509. doi: 10.1083/jcb.103.6.2499.
6
Segregation of all four major fibrillar collagen genes in the Marfan syndrome.
Am J Hum Genet. 1987 Dec;41(6):1071-82.
7
Marfan syndrome: exclusion of genetic linkage to three major collagen genes.
Am J Med Genet. 1988 Feb;29(2):457-62. doi: 10.1002/ajmg.1320290233.
8
Exclusion of the alpha 2(I) and alpha 1(III) collagen genes as the mutant loci in a Marfan syndrome family.
J Med Genet. 1987 Mar;24(3):148-51. doi: 10.1136/jmg.24.3.148.
9
Marfan syndrome: exclusion of genetic linkage to the COL1A2 gene.
Clin Genet. 1986 Nov;30(5):428-32.
10
An exclusion map of Marfan syndrome.
J Med Genet. 1990 Feb;27(2):73-7. doi: 10.1136/jmg.27.2.73.
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